Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenatal checkup of DNA for ABCA12 mutation helps in diagnosis but ultrasonography in places was not available.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9723482 | PMC |
http://dx.doi.org/10.1002/ccr3.6709 | DOI Listing |
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